What is Marfan Syndrome?
Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991. (The Marfan Foundation, 2013)
Constellation of Symptoms
Risks
Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991. (The Marfan Foundation, 2013)
Constellation of Symptoms
- Eye complications
- Skeletal problems
- Long fingers
- Cardiovascular complications
- Long head
- Unusually tall
- Loose flexible joints
- Skin complications
Risks
- Collapsed lungs
- Heart attack
- Ruptured major blood vessels
- Death from complications